Associated Papers
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
Yilmaz Gulec E et al.
Clinical Genetics, 2022
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Piras R et al.
Human Mutation, 2014
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.
González Fernández D et al.
Dermatology (basel, Switzerland), 2013
Cold induced sweating syndrome with urinary system anomaly association.
Aljabari S et al.
Case Reports in Pediatrics, 2013
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
Dagoneau N et al.
American Journal of Human Genetics, 2007
[General anesthesia for Crisponi syndrome: case report].
Allary C et al.
Brazilian Journal of Anesthesiology (elsevier), 0
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